Variant report

Variant	rs2471319
Chromosome Location	chr7:139986397-139986398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12532105	0.94[ASN][1000 genomes]
rs12532353	0.94[ASN][1000 genomes]
rs2429211	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2429215	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4236486	0.83[ASN][1000 genomes]
rs4236487	0.83[ASN][1000 genomes]
rs4639430	0.94[ASN][1000 genomes]
rs4726753	0.81[ASN][1000 genomes]
rs60039229	0.88[ASN][1000 genomes]
rs62491830	0.94[ASN][1000 genomes]
rs62491833	0.94[ASN][1000 genomes]
rs62491835	0.93[ASN][1000 genomes]
rs6979854	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1015840	chr7:139912355-139987681	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv519667	chr7:139969051-139992387	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139975600-140002600	Weak transcription	Right Atrium	heart
2	chr7:139977400-139995400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:139984800-139986400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:139985200-139986800	Enhancers	Fetal Intestine Small	intestine
5	chr7:139985600-139986800	Enhancers	Fetal Intestine Large	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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